GPD1 deficiency—a rare, overlooked cause of liver disease

Türk N. E., Belkaya S., Teke S., TUNA KIRSAÇLIOĞLU C., EMİNOĞLU F. T., Çalıkoğlu T., ...Daha Fazla

Journal of Human Genetics, cilt.70, sa.7, ss.375-379, 2025 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 70 Sayı: 7
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1038/s10038-025-01339-9
  • Dergi Adı: Journal of Human Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, MEDLINE
  • Sayfa Sayıları: ss.375-379
  • Ankara Üniversitesi Adresli: Evet

Özet

Transient infantile hypertriglyceridemia is one of the diseases that should be considered in case of unexplained elevated liver enzymes, hypertriglyceridemia and hepatosteatosis. We report 2 siblings with novel homozygous variants in the GPD1 gene with transient infantile hypertriglyceridemia. Two siblings born from consanguineous marriage were referred due to hepatomegaly, elevated transaminases and fatty liver. After excluding other possible causes of fatty liver and elevated transaminase levels; whole-exome sequencing (WES) was performed on genomic DNA isolated from the peripheral blood samples of both patients. Whole exome sequencing revealed the identification of a novel homozygous variant, c.628 G > C:p.G210R, in GPD1. Our report underscores the importance of genome sequencing in diagnosing unexplained childhood fatty liver disease and/or elevated enzyme levels. In patients with transient infantile hypertriglyceridemia, investigation into novel homozygous variants in the GPD1 gene should be conducted using whole exome sequencing.